Conditions / Genetic
granular corneal dystrophy 1
info ยท Genetic
A granular corneal dystrophy that is characterized by recurrent erosions and gray crumb-like opacification located_in the cornea, proteinaceous rock candy-like deposits in the anterior stroma and subepithelium, and progressive vision loss later in life as depo
A granular corneal dystrophy that is characterized by recurrent erosions and gray crumb-like opacification located_in the cornea, proteinaceous rock candy-like deposits in the anterior stroma and subepithelium, and progressive vision loss later in life as deposits move into the central vision, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption of the corneal surface.
Signs and symptoms
- Granular corneal dystrophy
- Strabismus
- Nodular corneal dystrophy
- Cataract
- Punctate corneal dystrophy
Also known as: corneal dystrophy, Groenouw type I